Antithrombin "Chicago": a functionally abnormal molecule with increased heparin affinity causing familial thrombophilia.

A family with a high incidence of spontaneous thromboembolism over four generations has been investigated. The propositus is a 21-yr-old male with a history of thrombophlebitis. Medical histories of 46 family members were obtained. Twelve of these individuals have experienced deep venous thromboses and/or pulmonary emboli. Seven members of the kindred, with a prior history of thrombotic phenomena, were investigated in detail. These subjects were found to have normal plasma concentrations of immunoreactive antithrombin (mean 96%), decreased plasma levels of progressive antithrombin activity (mean 50%), and greatly reduced amounts of plasma heparin cofactor activity (mean 42%). The abnormal antithrombin ("Chicago") was found to elute from heparin-Sepharose at a higher ionic strength than normal inhibitor. The functionally defective antithrombin molecules exhibit a reduced ability to neutralize thrombin in the presence or absence of heparin (approximately 10%-20% of normal). The molecular defect of this protease inhibitor thus appears to be distinct from those of previously described abnormal antithrombins.
AuthorsK A Bauer, J B Ashenhurst, J Chediak, R D Rosenberg
JournalBlood (Blood) Vol. 62 Issue 6 Pg. 1242-50 (Dec 1983) ISSN: 0006-4971 [Print] UNITED STATES
PMID6640109 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Antithrombin III
  • Plasminogen
  • Heparin
  • Adult
  • Antithrombin III (analysis, genetics, metabolism)
  • Blood Coagulation Tests
  • Chromatography, Affinity
  • Female
  • Heparin (metabolism)
  • Humans
  • Male
  • Pedigree
  • Plasminogen (analysis, genetics)
  • Thromboembolism (blood, diagnosis, genetics)
  • Thrombosis (blood, genetics)

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